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Aliases for KIF1A Gene

Aliases for KIF1A Gene

  • Kinesin Family Member 1A 2 3 5
  • Axonal Transporter Of Synaptic Vesicles 3 4
  • Unc-104- And KIF1A-Related Protein 3 4
  • Microtubule-Based Motor KIF1A 3 4
  • C2orf20 3 4
  • ATSV 3 4
  • Kinesin, Heavy Chain, Member 1A, Homolog Of Mouse 3
  • Spastic Paraplegia 30 (Autosomal Recessive) 2
  • Axonal Transport Of Synaptic Vesicles 2
  • Chromosome 2 Open Reading Frame 20 2
  • Kinesin-Like Protein KIF1A 3
  • HUnc-104 4
  • UNC104 3
  • HSN2C 3
  • SPG30 3
  • MRD9 3

External Ids for KIF1A Gene

Previous HGNC Symbols for KIF1A Gene

  • ATSV
  • C2orf20
  • SPG30

Previous GeneCards Identifiers for KIF1A Gene

  • GC02M241975
  • GC02M241973
  • GC02M241373
  • GC02M241653
  • GC02M233413

Summaries for KIF1A Gene

Entrez Gene Summary for KIF1A Gene

  • The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]

GeneCards Summary for KIF1A Gene

KIF1A (Kinesin Family Member 1A) is a Protein Coding gene. Diseases associated with KIF1A include Spastic Paraplegia 30, Autosomal Recessive and Neuropathy, Hereditary Sensory, Type Iic. Among its related pathways are Golgi-to-ER retrograde transport and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is KIF1B.

UniProtKB/Swiss-Prot for KIF1A Gene

  • Motor for anterograde axonal transport of synaptic vesicle precursors.

Gene Wiki entry for KIF1A Gene

Additional gene information for KIF1A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIF1A Gene

Genomics for KIF1A Gene

GeneHancer (GH) Regulatory Elements for KIF1A Gene

Promoters and enhancers for KIF1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J240817 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 650.7 +1.3 1268 3.7 KLF17 SIN3A ZNF335 GLIS2 SCRT2 EGR2 ZNF398 GLIS1 ZNF341 ZBTB26 KIF1A NDUFA10 C2orf54 AGXT MTERF4 GC02P240756
GH02J240831 Enhancer 1.2 FANTOM5 Ensembl ENCODE 6.4 -11.2 -11152 1.3 HDGF ARID4B SIN3A DMAP1 BMI1 ZNF335 RCOR1 SP3 ZBTB25 SREBF1 C2orf54 KIF1A AGXT
GH02J240889 Enhancer 0.7 dbSUPER 10.6 -68.8 -68800 1.5 KLF1 MAX THRB YY1 NR2F6 RXRA ZBTB25 KLF4 NR2F2 FOXA1 C2orf54 KIF1A AGXT
GH02J240791 Enhancer 0.5 ENCODE 12.4 +28.6 28623 1.4 ZFHX2 USF1 POLR2A ZIC2 EGR2 KIF1A C2orf54 GC02P240756
GH02J240780 Enhancer 0.5 FANTOM5 12.2 +40.6 40636 0.7 ZFHX2 ZBTB33 EGR2 KIF1A ANKMY1 AQP12B AQP12A GC02P240756
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIF1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIF1A gene promoter:
  • Egr-2
  • CHOP-10
  • C/EBPalpha
  • E47
  • p300
  • GATA-1
  • Spz1
  • SRY
  • Pax-4a
  • c-Myb

Genomic Locations for KIF1A Gene

Genomic Locations for KIF1A Gene
chr2:240,713,764-240,821,025
(GRCh38/hg38)
Size:
107,262 bases
Orientation:
Minus strand
chr2:241,653,181-241,759,725
(GRCh37/hg19)
Size:
106,545 bases
Orientation:
Minus strand

Genomic View for KIF1A Gene

Genes around KIF1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIF1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF1A Gene

Proteins for KIF1A Gene

  • Protein details for KIF1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12756-KIF1A_HUMAN
    Recommended name:
    Kinesin-like protein KIF1A
    Protein Accession:
    Q12756
    Secondary Accessions:
    • B0I1S5
    • F5H045
    • O95068
    • Q13355
    • Q14752
    • Q2NKJ6
    • Q4LE42
    • Q53T78
    • Q59GH1
    • Q63Z40
    • Q6P1R9
    • Q7KZ57

    Protein attributes for KIF1A Gene

    Size:
    1690 amino acids
    Molecular mass:
    191064 Da
    Quaternary structure:
    • Monomer. Interacts with PPFIA1 and PPFIA4 (By similarity).
    SequenceCaution:
    • Sequence=AAB97363.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAE06111.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAE06111.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact leading to C-terminal exon with non-canonical splice junction.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KIF1A Gene

    Alternative splice isoforms for KIF1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIF1A Gene

Post-translational modifications for KIF1A Gene

  • Ubiquitination at isoforms=2, 3670
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIF1A Gene

Domains & Families for KIF1A Gene

Gene Families for KIF1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for KIF1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q12756

UniProtKB/Swiss-Prot:

KIF1A_HUMAN :
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.
genes like me logo Genes that share domains with KIF1A: view

Function for KIF1A Gene

Molecular function for KIF1A Gene

UniProtKB/Swiss-Prot Function:
Motor for anterograde axonal transport of synaptic vesicle precursors.

Phenotypes From GWAS Catalog for KIF1A Gene

Gene Ontology (GO) - Molecular Function for KIF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA,TAS 7539720
GO:0003777 microtubule motor activity IEA,IBA --
GO:0005515 protein binding IEA --
GO:0005524 ATP binding IEA --
GO:0008017 microtubule binding IEA --
genes like me logo Genes that share ontologies with KIF1A: view
genes like me logo Genes that share phenotypes with KIF1A: view

Human Phenotype Ontology for KIF1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIF1A Gene

MGI Knock Outs for KIF1A:

Animal Model Products

  • Taconic Biosciences Mouse Models for KIF1A

Clone Products

  • Addgene plasmids for KIF1A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KIF1A Gene

Localization for KIF1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF1A Gene

Cytoplasm, cytoskeleton. Note=Expressed in distal regions of neurites. {ECO:0000269 PubMed:25265257}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIF1A gene
Compartment Confidence
cytoskeleton 4
cytosol 4
mitochondrion 2
nucleus 2
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubule organizing center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0005856 cytoskeleton IEA --
GO:0005871 kinesin complex IBA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with KIF1A: view

Pathways & Interactions for KIF1A Gene

genes like me logo Genes that share pathways with KIF1A: view

Gene Ontology (GO) - Biological Process for KIF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IBA,IEA --
GO:0008089 anterograde axonal transport IEA --
GO:0016192 vesicle-mediated transport IBA --
GO:0022027 interkinetic nuclear migration IEA --
GO:0030705 cytoskeleton-dependent intracellular transport IBA --
genes like me logo Genes that share ontologies with KIF1A: view

No data available for SIGNOR curated interactions for KIF1A Gene

Drugs & Compounds for KIF1A Gene

(2) Drugs for KIF1A Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate Experimental Pharma Target 0
Phosphoaminophosphonic Acid-Adenylate Ester Experimental Pharma Target 0
genes like me logo Genes that share compounds with KIF1A: view

Transcripts for KIF1A Gene

mRNA/cDNA for KIF1A Gene

(5) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KIF1A Gene

Kinesin family member 1A:
Representative Sequences:

Clone Products

  • Addgene plasmids for KIF1A

Alternative Splicing Database (ASD) splice patterns (SP) for KIF1A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b ^ 23 ^
SP1:
SP2:
SP3: - -
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37a · 37b ^ 38a · 38b ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^
SP1: - - -
SP2:
SP3:
SP4:
SP5:
SP6: - - - - -
SP7:
SP8:
SP9:
SP10: - - - - - - - - - - - - - - - -
SP11:
SP12:

ExUns: 44a · 44b ^ 45a · 45b ^ 46 ^ 47 ^ 48a · 48b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - - - - -
SP11:
SP12:

Relevant External Links for KIF1A Gene

GeneLoc Exon Structure for
KIF1A
ECgene alternative splicing isoforms for
KIF1A

Expression for KIF1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIF1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIF1A Gene

This gene is overexpressed in Brain - Cortex (x5.7), Brain - Anterior cingulate cortex (BA24) (x4.9), Brain - Frontal Cortex (BA9) (x4.9), Brain - Amygdala (x4.8), and Brain - Hippocampus (x4.4).

Protein differential expression in normal tissues from HIPED for KIF1A Gene

This gene is overexpressed in Brain (23.2), Frontal cortex (13.6), Liver (9.8), Fetal Brain (7.8), and Spinal cord (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KIF1A Gene



Protein tissue co-expression partners for KIF1A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KIF1A Gene:

KIF1A

SOURCE GeneReport for Unigene cluster for KIF1A Gene:

Hs.516802

mRNA Expression by UniProt/SwissProt for KIF1A Gene:

Q12756-KIF1A_HUMAN
Tissue specificity: Expressed in neurons.

Evidence on tissue expression from TISSUES for KIF1A Gene

  • Nervous system(5)
  • Eye(4.8)
  • Pancreas(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIF1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • prostate
  • rectum
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with KIF1A: view

Orthologs for KIF1A Gene

This gene was present in the common ancestor of animals.

Orthologs for KIF1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIF1A 34 33
  • 98.67 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIF1A 34
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIF1A 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIF1A 34 33
  • 91.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIF1A 34 33
  • 90.61 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Kif1a 16 34 33
  • 89.17 (n)
rat
(Rattus norvegicus)
Mammalia Kif1a 33
  • 88.87 (n)
chicken
(Gallus gallus)
Aves KIF1A 34 33
  • 85.45 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIF1A 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kif1a 33
  • 73.77 (n)
Str.17627 33
zebrafish
(Danio rerio)
Actinopterygii kif1aa 34
  • 85 (a)
OneToMany
kif1ab 34
  • 80 (a)
OneToMany
kif1a 33
  • 74.48 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta KIF1A_ANOGA 33
  • 61.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta unc-104 34 33
  • 61.15 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-104 34 33
  • 52.68 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToMany
Species where no ortholog for KIF1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KIF1A Gene

ENSEMBL:
Gene Tree for KIF1A (if available)
TreeFam:
Gene Tree for KIF1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIF1A: view image

Paralogs for KIF1A Gene

Variants for KIF1A Gene

Sequence variations from dbSNP and Humsavar for KIF1A Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1011958341 uncertain-significance, Spastic Paraplegia, Recessive, Hereditary sensory and autonomic neuropathy type II, Intellectual Disability, Dominant 240,715,204(-) A/G 3_prime_UTR_variant
rs1057518760 likely-pathogenic, Clonus, Hyperreflexia, Lower limb hyperreflexia, Spastic paraplegia 240,788,182(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs10594016 likely-benign, uncertain-significance, benign, not specified 240,757,424(-) TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC/TCCTCCTCCTCCTCCTCCTCC/TCCTCCTCCTCCTCCTCCTCCTCC/TCCTCCTCCTCCTCCTCCTCCTCCTCC/TCCTCCTCCTCCTCCTCCTCCTCCTCCTCC/TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC coding_sequence_variant, inframe_deletion, inframe_insertion, intron_variant
rs1061113 uncertain-significance, Hereditary sensory and autonomic neuropathy type II, Intellectual Disability, Dominant, Spastic Paraplegia, Recessive 240,717,256(-) G/A 3_prime_UTR_variant
rs1061114 uncertain-significance, Hereditary sensory and autonomic neuropathy type II, Intellectual Disability, Dominant, Spastic Paraplegia, Recessive 240,717,123(-) G/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for KIF1A Gene

Variant ID Type Subtype PubMed ID
dgv4197n100 CNV gain 25217958
dgv4198n100 CNV gain 25217958
dgv4199n100 CNV gain 25217958
dgv7360n54 CNV gain 21841781
dgv7361n54 CNV gain 21841781
dgv7362n54 CNV gain 21841781
dgv7363n54 CNV loss 21841781
dgv7364n54 CNV gain+loss 21841781
dgv7365n54 CNV gain+loss 21841781
dgv7366n54 CNV loss 21841781
dgv7367n54 CNV loss 21841781
dgv7368n54 CNV loss 21841781
dgv7369n54 CNV loss 21841781
dgv7370n54 CNV gain 21841781
dgv7371n54 CNV gain 21841781
dgv7372n54 CNV gain+loss 21841781
dgv7373n54 CNV loss 21841781
esv1477251 CNV insertion 17803354
esv1760899 CNV insertion 17803354
esv22650 CNV gain 19812545
esv22959 CNV loss 19812545
esv23353 CNV loss 19812545
esv2568669 CNV insertion 19546169
esv2659889 CNV deletion 23128226
esv2662727 CNV deletion 23128226
esv2721950 CNV deletion 23290073
esv2721952 CNV deletion 23290073
esv2721953 CNV deletion 23290073
esv3352731 CNV insertion 20981092
esv3561301 CNV deletion 23714750
esv3575344 CNV gain 25503493
esv3584391 CNV loss 25503493
esv3594809 CNV gain 21293372
esv3893577 CNV gain 25118596
nsv1002661 CNV gain 25217958
nsv1071665 CNV deletion 25765185
nsv1160909 CNV duplication 26073780
nsv460162 CNV gain 19166990
nsv460165 CNV gain 19166990
nsv460166 CNV loss 19166990
nsv460167 CNV gain 19166990
nsv470530 CNV gain 18288195
nsv470531 CNV loss 18288195
nsv512790 CNV insertion 21212237
nsv519624 CNV gain+loss 19592680
nsv526010 CNV loss 19592680
nsv527844 CNV gain 19592680
nsv584813 CNV gain 21841781
nsv584820 CNV gain 21841781
nsv584829 CNV loss 21841781
nsv584831 CNV loss 21841781
nsv584834 CNV loss 21841781
nsv584835 CNV loss 21841781
nsv584842 CNV gain 21841781
nsv584857 CNV loss 21841781
nsv584860 CNV loss 21841781
nsv584861 CNV gain 21841781
nsv584864 CNV gain+loss 21841781
nsv584871 CNV gain+loss 21841781
nsv584874 CNV loss 21841781
nsv584879 CNV loss 21841781
nsv7337 OTHER inversion 18451855
nsv834587 CNV gain 17160897
nsv955294 CNV deletion 24416366

Variation tolerance for KIF1A Gene

Residual Variation Intolerance Score: 0.723% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIF1A Gene

Human Gene Mutation Database (HGMD)
KIF1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIF1A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF1A Gene

Disorders for KIF1A Gene

MalaCards: The human disease database

(14) MalaCards diseases for KIF1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KIF1A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KIF1A_HUMAN
  • Spastic paraplegia 30, autosomal recessive (SPG30) [MIM:610357]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG30 is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. {ECO:0000269 PubMed:21487076}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neuropathy, hereditary sensory, 2C (HSN2C) [MIM:614213]: A neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs. {ECO:0000269 PubMed:21820098}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:21376300, ECO:0000269 PubMed:25265257, ECO:0000269 PubMed:26125038, ECO:0000269 PubMed:26410750}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in KIF1A are a cause autosomal dominant spastic paraplegia. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. {ECO:0000269 PubMed:25585697, ECO:0000269 PubMed:26410750}.

Additional Disease Information for KIF1A

genes like me logo Genes that share disorders with KIF1A: view

No data available for Genatlas for KIF1A Gene

Publications for KIF1A Gene

  1. Characterization of a kinesin-related gene ATSV, within the tuberous sclerosis locus (TSC1) candidate region on chromosome 9Q34. (PMID: 8661001) Furlong RA … Affara NA (Genomics 1996) 3 4 22 58
  2. The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors. (PMID: 7539720) Okada Y … Hirokawa N (Cell 1995) 2 3 22 58
  3. Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. (PMID: 26410750) Citterio A … Bassi MT (Journal of neurology 2015) 3 4 58
  4. Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. (PMID: 25585697) Ylikallio E … Tyynismaa H (European journal of human genetics : EJHG 2015) 3 4 58
  5. De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. (PMID: 25265257) Lee JR … Michaud JL (Human mutation 2015) 3 4 58

Products for KIF1A Gene

  • Addgene plasmids for KIF1A

Sources for KIF1A Gene

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